Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene
由BTD基因中一种新的纯合变异c.466-3T>G引起的迟发性亚急性重度生物素酶缺乏症
期刊:Indian Journal of Pediatrics
影响因子:2
doi:10.1007/s12098-021-04000-3
Mohite, Kaustubh; Nair, Karthik Vijay; Sapare, Anilkumar; Bhat, Venkatraman; Shukla, Anju; Kekatpure, Minal; Patil, Siddaramappa J